Membrane fatty acids, glutathione-peroxidase activity, and cation transport systems of erythrocytes and malondialdehyde production by platelets in Laurence Moon Barter Biedl syndrome

J Endocrinol Invest. 1989 Jul-Aug;12(7):475-81. doi: 10.1007/BF03350737.

Abstract

The fatty acid composition of erythrocyte membrane, the glutathione-peroxidase activity of erythrocytes and platelets, the production of malondialdehyde by platelets and the activity of the main systems of transmembrane cation transport have been studied in 5 members of a family, 2 of whom affected by Laurence-Moon-Barter-Biedl Syndrome. A remarkable increase of polyunsaturated fatty acids (particularly arachidonic acid) and of cholesterol/phospholipid molar ratio has been noted. This pattern of membrane lipids was associated to an increment of malondialdehyde production and an increase activity of glutathione-peroxidase. Serum retinol and a-tocopherol were in the normal range, whereas serum selenium was low in 3 out of 5 members. Moreover, the alteration of membrane lipids was associated to a decrease of the maximal velocity of Li-Na countertransport. We speculate that the enrichment of polyunsaturated fatty acids on the cell membranes may represent a condition favoring the lipoperoxidation and therefore the development of the retinitis pigmentosa characteristic feature of Laurence-Moon-Barter-Biedl Syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biological Transport, Active
  • Blood Platelets / metabolism*
  • Erythrocyte Membrane / metabolism
  • Erythrocytes / metabolism*
  • Female
  • Glutathione Peroxidase / analysis*
  • Humans
  • Laurence-Moon Syndrome / blood*
  • Male
  • Malonates / metabolism*
  • Malondialdehyde / metabolism*
  • Membrane Lipids / metabolism
  • Middle Aged
  • Retinitis Pigmentosa / etiology
  • Selenium / blood
  • Sodium / metabolism
  • Vitamin A / blood
  • Vitamin E / blood

Substances

  • Malonates
  • Membrane Lipids
  • Vitamin A
  • Vitamin E
  • Malondialdehyde
  • Sodium
  • Glutathione Peroxidase
  • Selenium